Variant report

Variant	esv2750810
Chromosome Location	chr1:152453669-152660927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1941)
CpG islands
(count:3360)
Chromatin interactive
region (count:46)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:152497800-152498135	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:152630020-152630046	K562	blood:	n/a	n/a
3	ARID3A	chr1:152464147-152464342	HepG2	liver:	n/a	n/a
4	ATF2	chr1:152537532-152538062	GM12878	blood:	n/a	n/a
5	ATF2	chr1:152549641-152550036	GM12878	blood:	n/a	n/a
6	ATF3	chr1:152474023-152474647	A549	lung:	n/a	n/a
7	ATF3	chr1:152474035-152474592	A549	lung:	n/a	n/a
8	BACH1	chr1:152555244-152555264	K562	blood:	n/a	chr1:152555246-152555260
9	BATF	chr1:152549615-152549949	GM12878	blood:	n/a	n/a
10	BATF	chr1:152537564-152537953	GM12878	blood:	n/a	n/a
11	BATF	chr1:152537583-152537985	GM12878	blood:	n/a	n/a
12	BATF	chr1:152549573-152550008	GM12878	blood:	n/a	n/a
13	BCL3	chr1:152474009-152474620	A549	lung:	n/a	n/a
14	BCL3	chr1:152474020-152474727	A549	lung:	n/a	n/a
15	BHLHE40	chr1:152626601-152626748	K562	blood:	n/a	n/a
16	BHLHE40	chr1:152516435-152516557	K562	blood:	n/a	n/a
17	BHLHE40	chr1:152635566-152635930	HepG2	liver:	n/a	chr1:152635767-152635776 chr1:152635766-152635775 chr1:152635766-152635775
18	BHLHE40	chr1:152595213-152595387	GM12878	blood:	n/a	n/a
19	CEBPB	chr1:152546403-152546497	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:152479524-152479857	A549	lung:	n/a	n/a
21	CEBPB	chr1:152497676-152498092	A549	lung:	n/a	chr1:152497788-152497801
22	CEBPB	chr1:152497742-152497999	HepG2	liver:	n/a	chr1:152497788-152497801
23	CEBPB	chr1:152629926-152630079	K562	blood:	n/a	chr1:152630007-152630020
24	CEBPB	chr1:152535518-152535885	HepG2	liver:	n/a	chr1:152535674-152535685 chr1:152535692-152535705 chr1:152535673-152535686 chr1:152535693-152535704 chr1:152535806-152535817
25	CEBPB	chr1:152631162-152631327	HepG2	liver:	n/a	chr1:152631187-152631200
26	CEBPB	chr1:152497662-152498094	A549	lung:	n/a	chr1:152497788-152497801
27	CEBPB	chr1:152497663-152498081	HepG2	liver:	n/a	chr1:152497788-152497801
28	CEBPB	chr1:152535544-152535899	A549	lung:	n/a	chr1:152535674-152535685 chr1:152535692-152535705 chr1:152535673-152535686 chr1:152535693-152535704 chr1:152535806-152535817
29	CEBPB	chr1:152645885-152646048	HepG2	liver:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
30	CEBPB	chr1:152493307-152493610	A549	lung:	n/a	chr1:152493595-152493607
31	CEBPB	chr1:152535595-152535869	Hela-S3	cervix:	n/a	chr1:152535674-152535685 chr1:152535692-152535705 chr1:152535673-152535686 chr1:152535693-152535704 chr1:152535806-152535817
32	CEBPB	chr1:152535552-152535869	IMR90	lung:	n/a	chr1:152535674-152535685 chr1:152535692-152535705 chr1:152535673-152535686 chr1:152535693-152535704 chr1:152535806-152535817
33	CEBPB	chr1:152645918-152646083	A549	lung:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
34	CEBPB	chr1:152635735-152635823	HepG2	liver:	n/a	chr1:152635776-152635787 chr1:152635777-152635788
35	CEBPB	chr1:152497637-152498096	HepG2	liver:	n/a	chr1:152497788-152497801
36	CEBPB	chr1:152569565-152569765	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:152497790-152497957	K562	blood:	n/a	n/a
38	CEBPB	chr1:152475333-152475515	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:152497570-152498264	A549	lung:	n/a	chr1:152497788-152497801
40	CEBPB	chr1:152647617-152647851	HepG2	liver:	n/a	chr1:152647675-152647686 chr1:152647676-152647687
41	CEBPB	chr1:152474042-152474652	A549	lung:	n/a	n/a
42	CEBPB	chr1:152475323-152475483	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:152474105-152474582	A549	lung:	n/a	n/a
44	CEBPB	chr1:152645922-152646032	K562	blood:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152645928-152645941
45	CEBPB	chr1:152475046-152475605	A549	lung:	n/a	n/a
46	CEBPB	chr1:152479431-152479933	A549	lung:	n/a	n/a
47	CEBPB	chr1:152474022-152474518	A549	lung:	n/a	n/a
48	CHD2	chr1:152482065-152482147	GM12878	blood:	n/a	n/a
49	CREB1	chr1:152474140-152474501	A549	lung:	n/a	n/a
50	CREB1	chr1:152489620-152489967	A549	lung:	n/a	n/a

(count:3360 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152596413-152596463	NT2-D1	testis:	n/a
2	chr1:152635878-152635928	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:152484386-152484436	A549	lung:	n/a
4	chr1:152538888-152538938	BE2_C	brain:	n/a
5	chr1:152635226-152635276	SK-N-SH	brain:	n/a
6	chr1:152596413-152596463	NT2-D1	testis:	n/a
7	chr1:152635878-152635928	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:152484386-152484436	A549	lung:	n/a
9	chr1:152538888-152538938	BE2_C	brain:	n/a
10	chr1:152635226-152635276	SK-N-SH	brain:	n/a
11	chr1:152538426-152538476	ProgFib	skin:	n/a
12	chr1:152488262-152488312	ECC-1	luminal epithelium:	n/a
13	chr1:152490870-152490920	BE2_C	brain:	n/a
14	chr1:152487335-152487385	HUVEC	blood vessel:	n/a
15	chr1:152486609-152486659	H1-hESC	embryonic stem cell:	embryo
16	chr1:152659554-152659604	MCF-7	breast:	n/a
17	chr1:152659554-152659604	RPTEC	kidney:	n/a
18	chr1:152647216-152647266	GM12878	blood:	n/a
19	chr1:152506842-152506892	PFSK-1	brain:	n/a
20	chr1:152595982-152596032	LNCaP	prostate:	n/a
21	chr1:152635878-152635928	HEK293	kidney:	embryo
22	chr1:152487909-152487959	T-47D	breast:	n/a
23	chr1:152647793-152647843	LNCaP	prostate:	n/a
24	chr1:152595992-152596042	HIPEpiC	eye:	n/a
25	chr1:152647216-152647266	BJ	skin:	n/a
26	chr1:152595842-152595892	BJ	skin:	n/a
27	chr1:152647216-152647266	HMEC	breast:	n/a
28	chr1:152506886-152506936	Jurkat	blood:	n/a
29	chr1:152635878-152635928	HMEC	breast:	n/a
30	chr1:152595992-152596042	BJ	skin:	n/a
31	chr1:152490870-152490920	NH-A	brain:	n/a
32	chr1:152658797-152658847	SK-N-SH_RA	brain:	n/a
33	chr1:152486950-152487000	CMK	blood:	n/a
34	chr1:152595629-152595679	HMEC	breast:	n/a
35	chr1:152506842-152506892	GM12878	blood:	n/a
36	chr1:152490870-152490920	U87	brain:	n/a
37	chr1:152488262-152488312	NT2-D1	testis:	n/a
38	chr1:152659554-152659604	K562	blood:	n/a
39	chr1:152647793-152647843	SAEC	small airway:	n/a
40	chr1:152538888-152538938	HCPEpiC	choroid plexus:	n/a
41	chr1:152596413-152596463	HRE	kidney:	n/a
42	chr1:152596413-152596463	GM12892	blood:	n/a
43	chr1:152483675-152483725	NT2-D1	testis:	n/a
44	chr1:152657198-152657248	A549	lung:	n/a
45	chr1:152538380-152538430	ECC-1	luminal epithelium:	n/a
46	chr1:152490870-152490920	HCPEpiC	choroid plexus:	n/a
47	chr1:152658797-152658847	BJ	skin:	n/a
48	chr1:152488368-152488418	SAEC	small airway:	n/a
49	chr1:152595351-152595401	NT2-D1	testis:	n/a
50	chr1:152647793-152647843	HCF	heart:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152508160..152510844-chr1:152518388..152520386,2	K562	blood:
2	chr1:152485897..152487871-chr1:152488735..152491342,2	MCF-7	breast:
3	chr1:152550535..152553138-chr1:152591146..152593497,2	K562	blood:
4	chr1:152507658..152510511-chr1:152512542..152515138,2	MCF-7	breast:
5	chr1:152469656..152470449-chr1:152707864..152708774,3	MCF-7	breast:
6	chr1:152469001..152470435-chr1:152505453..152506443,13	MCF-7	breast:
7	chr1:152469581..152470426-chr1:152898262..152898945,2	MCF-7	breast:
8	chr1:152626212..152627124-chr1:152707916..152708805,6	MCF-7	breast:
9	chr1:152632060..152634840-chr1:152638354..152640760,3	MCF-7	breast:
10	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
11	chr1:152478290..152479934-chr1:152485097..152487214,2	MCF-7	breast:
12	chr1:152467226..152468092-chr1:152505547..152506816,7	MCF-7	breast:
13	chr1:152512266..152512767-chr16:8754919..8755481,3	MCF-7	breast:
14	chr1:152486736..152490871-chr1:152492622..152496834,3	MCF-7	breast:
15	chr1:152626130..152627645-chr1:152842015..152844012,15	MCF-7	breast:
16	chr1:152640283..152643005-chr1:152645549..152648170,2	MCF-7	breast:
17	chr1:152433729..152434269-chr1:152505524..152506462,2	MCF-7	breast:
18	chr1:152475128..152477150-chr1:152479048..152480719,2	MCF-7	breast:
19	chr1:152458591..152459582-chr1:152505807..152506392,3	MCF-7	breast:
20	chr1:152618269..152620225-chr1:152622000..152623850,2	MCF-7	breast:
21	chr1:152469495..152470816-chr1:152505489..152506516,11	MCF-7	breast:
22	chr1:152507658..152510511-chr1:152512542..152515138,2	MCF-7	breast:
23	chr1:152626437..152627174-chr1:152749824..152750672,3	MCF-7	breast:
24	chr1:152580545..152582523-chr1:152584809..152586590,2	K562	blood:
25	chr1:152467377..152468575-chr1:152505519..152506463,7	MCF-7	breast:
26	chr1:152469001..152470435-chr1:152505453..152506443,13	MCF-7	breast:
27	chr1:152632060..152634840-chr1:152638354..152640760,3	MCF-7	breast:
28	chr1:152467289..152467864-chr1:153164793..153165453,2	MCF-7	breast:
29	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
30	chr1:152467377..152468575-chr1:152505519..152506463,7	MCF-7	breast:
31	chr1:152469495..152470816-chr1:152505489..152506516,11	MCF-7	breast:
32	chr1:152618269..152620225-chr1:152622000..152623850,2	MCF-7	breast:
33	chr1:152494849..152497210-chr1:152499471..152502246,2	MCF-7	breast:
34	chr1:152485543..152488216-chr1:152489949..152493363,3	MCF-7	breast:
35	chr1:152626165..152627303-chr1:152707558..152708767,8	MCF-7	breast:
36	chr1:152494849..152497210-chr1:152499471..152502246,2	MCF-7	breast:
37	chr1:152464401..152465401-chr8:43092779..43093289,2	MCF-7	breast:
38	chr1:152626393..152627202-chr1:153165098..153165609,2	MCF-7	breast:
39	chr1:152469492..152471247-chr1:152505473..152506875,7	K562	blood:
40	chr1:152469492..152471247-chr1:152505473..152506875,7	K562	blood:
41	chr1:152475128..152477150-chr1:152479048..152480719,2	MCF-7	breast:
42	chr1:152433975..152434768-chr1:152504695..152505339,2	MCF-7	breast:
43	chr1:152626242..152627151-chr1:152734184..152735164,3	MCF-7	breast:
44	chr1:152458591..152459582-chr1:152505807..152506392,3	MCF-7	breast:
45	chr1:152467226..152468092-chr1:152505547..152506816,7	MCF-7	breast:
46	chr1:152508160..152510844-chr1:152518388..152520386,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-4	chr1:152480695-152481126	expReg_chr1_16977_+
2	lnc-CRCT1-2	chr1:152502924-152503231	expReg_chr1_17005_+
3	lnc-LCE2D-1	chr1:152629076-152629280	ENSG00000176075.6
4	lnc-LCE2D-1	chr1:152627953-152628023	ENSG00000176075
5	lnc-LCE2D-1	chr1:152628787-152628814	ENSG00000176075
6	lnc-LCE2D-1	chr1:152628787-152628812	ENSG00000176075.6
7	lnc-LCE2D-1	chr1:152628787-152628814	XLOC_000411
8	lnc-LCE5A-5	chr1:152460610-152460847	expReg_chr1_16933_+
9	lnc-LCE2D-1	chr1:152629078-152629280	XLOC_000411
10	lnc-LCE2D-1	chr1:152629075-152629266	ENSG00000176075
11	lnc-LCE2D-1	chr1:152627953-152628023	XLOC_000411
12	lnc-CRCT1-1	chr1:152493390-152493750	expReg_chr1_16986_+
13	lnc-LCE3A-1	chr1:152616869-152617193	NONHSAT006491
14	lnc-LCE2D-1	chr1:152627953-152628023	ENSG00000176075.6

No data

Variant related genes	Relation type
LINC00302	TF binding region
LCE3C	TF binding region
LCE3A	TF binding region
LCE3E	TF binding region
LCE2C	TF binding region
LCE3B	TF binding region
ENSG00000226947	TF binding region
LCE3D	TF binding region
LCE2D	TF binding region
LCE2B	TF binding region
CRCT1	TF binding region
LCE5A	TF binding region
LINC00302	CpG island
LCE3C	CpG island
LCE3A	CpG island
LCE3E	CpG island
LCE2C	CpG island
LCE3B	CpG island
ENSG00000226947	CpG island
LCE3D	CpG island
LCE2D	CpG island
LCE2B	CpG island
CRCT1	CpG island
LCE5A	CpG island
ENSG00000169509	chromatin interactions
ENSG00000163202	chromatin interactions
ENSG00000187238	chromatin interactions
ENSG00000187180	chromatin interactions

Extended variants
information (count: 4367 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:4367 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs476589	chr1:152453669-152453670	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552344161	chr1:152453693-152453694	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34077775	chr1:152453716-152453717	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72699002	chr1:152453773-152453774	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534425178	chr1:152453781-152453782	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72700903	chr1:152453803-152453804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567814154	chr1:152453807-152453808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34408408	chr1:152453886-152453887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376749907	chr1:152453927-152453928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556770638	chr1:152453950-152453951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576405017	chr1:152453975-152453976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549156795	chr1:152454015-152454016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186715903	chr1:152454054-152454055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572185355	chr1:152454111-152454112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115903704	chr1:152454183-152454184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35975540	chr1:152454185-152454186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs471144	chr1:152454255-152454256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529853828	chr1:152454308-152454309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116689413	chr1:152454344-152454345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563592187	chr1:152454346-152454347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377350469	chr1:152454432-152454433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567851793	chr1:152454439-152454440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12568980	chr1:152454444-152454445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192396142	chr1:152454464-152454465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6693741	chr1:152454548-152454549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11810024	chr1:152454572-152454573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs908922	chr1:152454591-152454592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
28	rs368972363	chr1:152454612-152454613	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183976611	chr1:152454679-152454680	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139543826	chr1:152454699-152454700	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142778502	chr1:152454721-152454722	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538674169	chr1:152454755-152454756	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571562594	chr1:152454793-152454794	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74383164	chr1:152454849-152454850	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572072290	chr1:152454859-152454860	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188921572	chr1:152454888-152454889	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556862041	chr1:152454892-152454893	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554999016	chr1:152454898-152454899	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12563567	chr1:152454957-152454958	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12403712	chr1:152455019-152455020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543590255	chr1:152455062-152455063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193128435	chr1:152455091-152455092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12411110	chr1:152455122-152455123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72700905	chr1:152455143-152455144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188505104	chr1:152455194-152455195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559401484	chr1:152455210-152455211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191826939	chr1:152455246-152455247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536129683	chr1:152455336-152455337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183682105	chr1:152455378-152455379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199857945	chr1:152455393-152455394	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152449000-152453800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:152452800-152455400	Enhancers	Duodenum Mucosa	Duodenum
3	chr1:152453200-152454600	Enhancers	Liver	Liver
4	chr1:152454600-152455000	Flanking Active TSS	Liver	Liver
5	chr1:152455000-152455600	Enhancers	Liver	Liver
6	chr1:152456600-152457000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:152456600-152457000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:152457400-152457600	Enhancers	Liver	Liver
9	chr1:152458000-152458200	Enhancers	NHEK	skin
10	chr1:152458200-152458400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:152458200-152458400	Enhancers	HMEC	breast
12	chr1:152458400-152459400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:152458400-152459400	Weak transcription	HMEC	breast
14	chr1:152458400-152459400	Weak transcription	NHEK	skin
15	chr1:152459000-152459800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:152459400-152461200	Enhancers	HMEC	breast
17	chr1:152459400-152461400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:152459400-152461400	Enhancers	NHEK	skin
19	chr1:152459800-152460600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:152460600-152461200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:152464200-152465000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr1:152470000-152473800	Enhancers	A549	lung
23	chr1:152470800-152471000	Enhancers	Esophagus	oesophagus
24	chr1:152471000-152474600	Weak transcription	Esophagus	oesophagus
25	chr1:152471400-152478800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:152473200-152474800	Enhancers	Fetal Intestine Large	intestine
27	chr1:152473200-152480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:152473600-152476200	Enhancers	Placenta	Placenta
29	chr1:152473600-152480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:152473800-152475000	Enhancers	NHEK	skin
31	chr1:152473800-152475800	Flanking Active TSS	A549	lung
32	chr1:152473800-152478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:152473800-152480600	Enhancers	HMEC	breast
34	chr1:152474000-152475400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:152474200-152474600	Enhancers	HepG2	liver
36	chr1:152474200-152475000	Enhancers	Osteobl	bone
37	chr1:152474600-152475200	Enhancers	Esophagus	oesophagus
38	chr1:152474600-152475200	Enhancers	NHDF-Ad	bronchial
39	chr1:152474800-152475800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:152475000-152475400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:152475000-152475400	Flanking Active TSS	NHEK	skin
42	chr1:152475200-152477200	Weak transcription	Esophagus	oesophagus
43	chr1:152475400-152480600	Enhancers	NHEK	skin
44	chr1:152475800-152476400	Enhancers	A549	lung
45	chr1:152475800-152479600	Enhancers	Fetal Intestine Large	intestine
46	chr1:152476200-152477600	Weak transcription	Placenta	Placenta
47	chr1:152476400-152482400	Weak transcription	A549	lung
48	chr1:152477000-152477200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:152477200-152478000	Enhancers	Esophagus	oesophagus
50	chr1:152477200-152478400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links